听力学及言语疾病杂志
聽力學及言語疾病雜誌
은역학급언어질병잡지
JOURNAL OF AUDIOLOGY AND SPEECH PATHOLOGY
2014年
6期
585-588
,共4页
李振安%梁淑贞%余凤慈%贺汤菁%刘芸%何清泉
李振安%樑淑貞%餘鳳慈%賀湯菁%劉蕓%何清泉
리진안%량숙정%여봉자%하탕정%류예%하청천
新生儿听力筛查%基因筛查%联合筛查
新生兒聽力篩查%基因篩查%聯閤篩查
신생인은력사사%기인사사%연합사사
Newborn hearing screening%Genetic screening%Concurrent screening
目的：分析新生儿听力与耳聋易感基因联合筛查的结果，探讨基因筛查的意义和基因型与表型的潜在联系。方法对2012年5月至2013年12月在佛山市出生的10238例新生儿采用 AABR 进行听力初筛和复筛，并采集足跟血行耳聋易感基因突变热点检测，对听力筛查结果和耳聋易感基因检测结果进行统计学对比分析。结果10238例新生儿听力初筛通过率99．16％（10150/10238），母婴同室新生儿（99．43％，9242/9295）比NICU 新生儿（96．29％，908/943）听力初筛通过率高，差异有统计学意义（χ2＝99．1，P＜0．001），而两组新生儿听力复筛通过率差异无统计学意义（χ2＝0．26，P＝0．61）。听力筛查阳性者中确诊听力损失者11例（1．07‰，11/10238），均为双耳中度到极重度听力损失。新生儿基因突变阳性率3．08％（315/10238），高于听力初筛的未通过率（0．84％）（χ2＝123．9，P＜0．001）。其中，GJB2 c．235delC 杂合突变165例，纯合缺失4例；c．299300delAT 杂合突变20例；c．176191del16杂合突变6例；未检测到 c．35delG 位点突变。SLC26A4 c．919－2A＞G 杂合突变82例，纯合突变3例；c．2168A＞G 杂合突变12例。MTRNR11555A＞G 异质性突变4例，同质性突变18例；1494C＞T 同质性突变1例。GJB2 c．235delC 和 SLC26A4 c．919－2A＞G 突变的新生儿中8例在出生25个月内确诊为中度到极重度感音神经性聋。结论新生儿耳聋易感基因筛查是对传统新生儿听力筛查的必要补充，有利于早期发现耳聋高危人群，预警潜在或迟发性耳聋的发生与及早干预。
目的：分析新生兒聽力與耳聾易感基因聯閤篩查的結果，探討基因篩查的意義和基因型與錶型的潛在聯繫。方法對2012年5月至2013年12月在彿山市齣生的10238例新生兒採用 AABR 進行聽力初篩和複篩，併採集足跟血行耳聾易感基因突變熱點檢測，對聽力篩查結果和耳聾易感基因檢測結果進行統計學對比分析。結果10238例新生兒聽力初篩通過率99．16％（10150/10238），母嬰同室新生兒（99．43％，9242/9295）比NICU 新生兒（96．29％，908/943）聽力初篩通過率高，差異有統計學意義（χ2＝99．1，P＜0．001），而兩組新生兒聽力複篩通過率差異無統計學意義（χ2＝0．26，P＝0．61）。聽力篩查暘性者中確診聽力損失者11例（1．07‰，11/10238），均為雙耳中度到極重度聽力損失。新生兒基因突變暘性率3．08％（315/10238），高于聽力初篩的未通過率（0．84％）（χ2＝123．9，P＜0．001）。其中，GJB2 c．235delC 雜閤突變165例，純閤缺失4例；c．299300delAT 雜閤突變20例；c．176191del16雜閤突變6例；未檢測到 c．35delG 位點突變。SLC26A4 c．919－2A＞G 雜閤突變82例，純閤突變3例；c．2168A＞G 雜閤突變12例。MTRNR11555A＞G 異質性突變4例，同質性突變18例；1494C＞T 同質性突變1例。GJB2 c．235delC 和 SLC26A4 c．919－2A＞G 突變的新生兒中8例在齣生25箇月內確診為中度到極重度感音神經性聾。結論新生兒耳聾易感基因篩查是對傳統新生兒聽力篩查的必要補充，有利于早期髮現耳聾高危人群，預警潛在或遲髮性耳聾的髮生與及早榦預。
목적：분석신생인은력여이롱역감기인연합사사적결과，탐토기인사사적의의화기인형여표형적잠재련계。방법대2012년5월지2013년12월재불산시출생적10238례신생인채용 AABR 진행은력초사화복사，병채집족근혈행이롱역감기인돌변열점검측，대은력사사결과화이롱역감기인검측결과진행통계학대비분석。결과10238례신생인은력초사통과솔99．16％（10150/10238），모영동실신생인（99．43％，9242/9295）비NICU 신생인（96．29％，908/943）은력초사통과솔고，차이유통계학의의（χ2＝99．1，P＜0．001），이량조신생인은력복사통과솔차이무통계학의의（χ2＝0．26，P＝0．61）。은력사사양성자중학진은력손실자11례（1．07‰，11/10238），균위쌍이중도도겁중도은력손실。신생인기인돌변양성솔3．08％（315/10238），고우은력초사적미통과솔（0．84％）（χ2＝123．9，P＜0．001）。기중，GJB2 c．235delC 잡합돌변165례，순합결실4례；c．299300delAT 잡합돌변20례；c．176191del16잡합돌변6례；미검측도 c．35delG 위점돌변。SLC26A4 c．919－2A＞G 잡합돌변82례，순합돌변3례；c．2168A＞G 잡합돌변12례。MTRNR11555A＞G 이질성돌변4례，동질성돌변18례；1494C＞T 동질성돌변1례。GJB2 c．235delC 화 SLC26A4 c．919－2A＞G 돌변적신생인중8례재출생25개월내학진위중도도겁중도감음신경성롱。결론신생인이롱역감기인사사시대전통신생인은력사사적필요보충，유리우조기발현이롱고위인군，예경잠재혹지발성이롱적발생여급조간예。
Objective To analyze clinical results of newborn hearing concurrent genetic screening and to ex-plore the significance of genetic test and potential correlations between the genotype and clinical phenotype.Methods Newborns in Foshan born during May,2012 and September,2013 were recruited.Two-step hearing screening was carried out by using AABR (automated auditory brainstem response).Blood samples were collected with a standard protocol for testing hot-spot mutations of common deafness-susceptibility genes.ResuIts A total of 10 238 newborns,including 9 295 rooming-in infants and 943 NICU infants,received hearing screening and 99.16%of passed the initial screening.The passing rates of rooming-in and NICU infants were significantly different (χ2 =99.1,P<0.001),but the difference was not significant in the secondary screening (χ2 =0.26,P=0.61).Three hundred and fifteen out of 10 238 (3.08%)newborns who underwent genetic testing were found to have one or two allele mutations of deafness-susceptibility genes,and the positive rate of genetic screening was significantly higher than the referring rate of initial hearing screening (χ2 =123.9,P<0.001).Newborns with gene mutations had high-er referring rate of hearing screening than the general population (χ2 =72.4,P<0.001).GJB2 c.235delC heterozygous mutation frequency was 1.61% (165/10 238),while the homozygous mutation frequency was 0.04% (4/10 238);c.299 300delAT heterozygous mutation frequency was 0.20% (20/10 238);c.176 191del16 heterozygous mutation frequency was 0.06% (6/10 238);no c.35delG mutation was detected.SLC26A4 c.919-2A>G heterozygous mu-tation frequency was 0.80% (82/10 238)and the homozygous mutation frequency was 0.03% (3/10 238);c.2168A>G heterozygous mutation frequency was 0.12% (12/10 238).MTRNR1 1555A>G heteroplasmic mutation fre-quency was 0.04% (4/10 238)while the homoplasmic mutation frequency was 0.18% (18/10 238).1494C>T ho-moplasmic mutation frequency was 0.01% (1/10 238).GJB2 c.235delC and SLC26A4 c.919 -2A>G mutations were found to be the most recurrent mutations in participants,and finally eight infants aged 6 days to 25 months di-agnosed with moderate to very severe sensorineural hearing loss were correlated with these two mutations.ConcIu-sion Genetic screening is a potent strategy to complement the conventional hearing screening since it is helpful for determining high risk individuals and early discovering possible late-onset hearing loss.
